Results 61 to 70 of about 56,560 (289)

Crystal Structure of the Double Homeodomain of DUX4 in Complex with DNA

Cell Reports, 2018
Summary: Double homeobox (DUX) transcription factors are unique to eutherian mammals. DUX4 regulates expression of repetitive elements during early embryogenesis, but misexpression of DUX4 causes facioscapulohumeral muscular dystrophy (FSHD) and ...
John K. Lee, Darko Bosnakovski, Erik A. Toso, Tracy Dinh, Surajit Banerjee, Thomas E. Bohl, Ke Shi, Kayo Orellana, Michael Kyba, Hideki Aihara   +9 more
doaj   +1 more source

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development [PDF]

, 2017
Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects.
A Javed, A McKenna, A-V Gendrel, A-V Gendrel, Abdelaziz Sefiani, Alex C Magee, Alexandra D Gurzau, Asif Javed, Audrey S M Teo, AW Mould, Axel M Hillmer, B Brasseur, Bernd Wollnik, Bruno Reversade, C Bock, Camille Dion, Carine Bonnard, Chalermpong Chatdokmaiprai, Christine Bole-Feysot, Christopher T Gordon, Denise Williams, Dieter Meschede, Duangrurdee Wattanasirichaigoon, F Magdinier, Frédérique Magdinier, GA Van der Auwera, Gökhan Tunçbilek, Gökhan Yigit, H Coker, H Li, H Mishima, Hallvard Reigstad, Hicham Filali, HL Szabo-Rogers, Holger Thiele, Hülya Kayserili, IA Adzhubei, Ilham Ratbi, J Harrow, James M Murphy, Janine Altmüller, JB Tryggestad, JC de Greef, JD Thompson, JE Hewitt, Jeanne Amiel, JM Graham Jr., K Chen, K Chen, K Wang, Kelan Chen, Koh-ichiro Yoshiura, L-C Li, LA Kelley, M Tang, M-C Gaillard, M-C Gaillard, MA DePristo, Marnie E Blewitt, MD Nickell, ME Blewitt, Meriem Fikri, Michael L Cunningham, Mung Kei Kong, Myriam Oufadem, N Rosin, Nadine Rosin, Nawfal Fejjal, Nicola Ragge, Nicolas Lévy, NJ Brideau, Nobuhiko Okamoto, NS Verkaik, P Flicek, P Kumar, Patrick Nitschké, PE Forni, Peter Nürnberg, R Dutta, R-S Nozawa, Rachel Irving, RJLF Lemmers, RJLF Lemmers, RJLF Lemmers, Ruth McGowan, S Faisal Ahmed, S Sacconi, Sabine Sigaudy, Shifeng Xue, Siham Chafai Elalaoui, ST Sherry, Stanislas Lyonnet, Tamara J Beck, Vinod Varghese, Wolfgang Mühlbauer, X Liu, X Liu, X Robert   +97 more
core   +3 more sources

Facioscapulohumeral muscular dystrophy: a review of pathogenesis, clinical symptoms, and treatment

Neurologijos seminarai, 2023
Facioscapulohumeral muscular dystrophy is the third most common muscular dystrophy characterised by weakness of the face, scapula, upper arm, and other muscles.
T. Mikalauskas, B. Burnytė
doaj   +3 more sources

Genetics of Facioscapulohumeral Muscular Dystrophy

Pediatric Neurology Briefs, 1991
More than 500 subjects from 41 families with dominantly inherited facioscapulohumeral muscular dystrophy (FSHD) were studied at the Royal Hospital for Sick Children, St. Michael’s Hill, Bristol and the University of Wales College of Medicine, Heath Park,
J Gordon Millichap
doaj   +1 more source

The prevalence of hereditary neuromuscular disorders in Northern Norway

Brain and Behavior, 2021
Aim To investigate the point prevalence of hereditary neuromuscular disorders on January 1, 2020 in Northern Norway. Methods From January 1, 1999, until January 1, 2020, we screened medical and genetic hospital records in Northern Norway for hereditary ...
Kai Ivar Müller, Marijke Van Ghelue, Irene Lund, Christoffer Jonsrud, Kjell Arne Arntzen   +4 more
doaj   +1 more source

Antagonism Between DUX4 and DUX4c Highlights a Pathomechanism Operating Through β-Catenin in Facioscapulohumeral Muscular Dystrophy

Frontiers in Cell and Developmental Biology, 2022
Aberrant expression of the transcription factor DUX4 from D4Z4 macrosatellite repeats on chromosome 4q35, and its transcriptome, associate with pathogenesis in facioscapulohumeral muscular dystrophy (FSHD).
M. Ganassi, N. Figeac, Magalie Reynaud, H. P. Ortuste Quiroga, P. Zammit   +4 more
semanticscholar   +1 more source

Oxidative Stress, Inflammation and Connexin Hemichannels in Muscular Dystrophies

Biomedicines, 2022
Muscular dystrophies (MDs) are a heterogeneous group of congenital neuromuscular disorders whose clinical signs include myalgia, skeletal muscle weakness, hypotonia, and atrophy that leads to progressive muscle disability and loss of ambulation.
Arlek González-Jamett, Walter Vásquez, Gabriela Cifuentes-Riveros, Rafaela Martínez-Pando, Juan C. Sáez, Ana M. Cárdenas   +5 more
doaj   +1 more source

FSHD muscular dystrophy Region Gene 1 binds Suv4-20h1 histone methyltransferase and impairs myogenesis [PDF]

, 2013
Facioscapulohumeral Muscular Dystrophy (FSHD) is an autosomal dominant myopathy with a strong epigenetic component. It is associated with deletion of a macrosatellite repeat leading to over-expression of the nearby genes. Among them, we focused on FSHD
Bortolanza S, Caccia R, CORONA, Davide, Gabellini D., Godio C, Neguembor MV, Onorati MC, Pistoni M, Schotta G, Xynos A   +9 more
core   +1 more source

Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy

Neurology, 2020
Objective Facioscapulohumeral muscular dystrophy (FSHD) is a heterogenetic disorder predominantly characterized by progressive facial and scapular muscle weakness.
K. Hamanaka, D. Šikrová, S. Mitsuhashi, H. Masuda, Y. Sekiguchi, A. Sugiyama, K. Shibuya, R. Lemmers, R. Goossens, M. Ogawa, Koji Nagao, C. Obuse, S. Noguchi, Y. Hayashi, S. Kuwabara, J. Balog, I. Nishino, S. M. van der Maarel   +17 more
semanticscholar   +1 more source

Cellular and molecular mechanisms underlying muscular dystrophy [PDF]

, 2014
The muscular dystrophies are a group of heterogeneous genetic diseases characterized by progressive degeneration and weakness of skeletal muscle. Since the discovery of the first muscular dystrophy gene encoding dystrophin, a large number of genes have ...
Kunkel, Louis M., Rahimov, Fedik
core   +1 more source